A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365627



Internal ID22279102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106442672..106442774hg38UCSC Ensembl
chr12:106836450..106836552hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529742
Supporting Variants
SamplesNA19239
Known GenesPOLR3B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365627
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer